Canonical Allele Identifier: CA70599019

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs895000484
• MyVariant Identifiers: chr3:g.15492313G>C (hg19) ; chr3:g.15450806G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450806G>C , CM000665.2:g.15450806G>C	GRCh38
NC_000003.11:g.15492313G>C , CM000665.1:g.15492313G>C	GRCh37
NC_000003.10:g.15467317G>C	NCBI36
NG_009032.1:g.75946C>G
NG_009032.2:g.75946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+639C>G (EAF1-AS1)
ENST00000626521.1:n.55+639C>G (EAF1-AS1)
ENST00000629729.3:c.414+639C>G	ENSP00000518887.1:n.414+639C>G
ENST00000383788.10:c.*838C>G (COLQ) MANE Select	ENSP00000373298.3:n.*838C>G
ENST00000679838.1:c.*1968C>G (COLQ)	ENSP00000505708.1:n.*1968C>G
ENST00000680545.1:n.1972C>G (COLQ)
ENST00000680897.1:n.1671C>G (COLQ)
ENST00000681097.1:c.*1220C>G (COLQ)	ENSP00000505397.1:n.*1220C>G
ENST00000681222.1:n.5697C>G (COLQ)
ENST00000383781.8:c.*838C>G (COLQ)	ENSP00000373291.3:n.*838C>G
ENST00000383788.9:c.*838C>G (COLQ)	ENSP00000373298.3:n.*838C>G
ENST00000603752.1:n.74C>G (COLQ)
NM_005677.3:c.*838C>G (COLQ)	NP_005668.2:n.*838C>G
NM_080538.2:c.*838C>G (COLQ)	NP_536799.1:n.*838C>G
NM_080539.3:c.*838C>G (COLQ)	NP_536800.2:n.*838C>G
NM_005677.4:c.*838C>G (COLQ) MANE Select	NP_005668.2:n.*838C>G
NM_080539.4:c.*838C>G (COLQ)	NP_536800.2:n.*838C>G